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Results 1 - 2 of 2 for Hypomyelinating leukodystrophy 2
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  1. POLR3A gene 
    ... of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Erratum In: Am J Hum Genet. 2012 Nov 2;91(5):972. Citation on PubMed or Free ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  2. POLR3B gene 
    ... POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic ... largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11;89( ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics